Screen of theIMPDH1Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation, Asp226Asn
Author:
Affiliation:
1. From the The Ocular Molecular Genetics Institute and the
2. Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Subject
General Medicine
Cited by 34 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic;Current Eye Research;2024-04-11
2. A journey into the regulatory secrets of the de novo purine nucleotide biosynthesis;Frontiers in Pharmacology;2024-02-20
3. Effect on cell survival and cytoophidium assembly of the adRP-10-related IMPDH1 missense mutation Asp226Asn;Frontiers in Cell and Developmental Biology;2023-09-04
4. Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation;Journal of Biological Chemistry;2023-08
5. Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype–Genotype Correlation Revealed Likely Benign Clinical Significance;International Journal of Molecular Sciences;2023-07-25
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